Abstract 4136799: Disparities in Diagnosis and Treatment of Heterozygous Familial Hypercholesterolemia

Introduction: The prevalence of heterozygous familial hypercholesterolemia (HeFH) is 1:250. Untreated individuals have up to a 20-fold increased risk for premature coronary artery disease (CAD). In adults, low socioeconomic status (SES) individuals, bear a disproportionate share of the CAD burden. In this context, we sought to examine the association of social determinants of health and age at HeFH diagnosis and treatment. Methods: We performed a retrospective single-center study of children with HeFH who presented to the Lipid Heart Clinic at the Children’s Hospital of Philadelphia (2012-2022). The primary outcome was age at HeFH diagnosis. The secondary outcome was age at statin initiation. Multivariable linear regression models were used to examine the association between the primary exposure of interest, Child Opportunity Index (COI) and the outcomes. Secondary exposures included race, ethnicity, health insurance, and primary language. To explore potential referral bias, we compared the COI of the study cohort to that of the institution’s catchment area, defined as within a two-hour drive of the primary clinic. Results: We evaluated 577 patients. The median age at presentation was 12 (9, 14) years and the median LDL-C was 199 (169, 235) mg/dL; 58% were prescribed a statin with a median age of statin initiation of 13 (10, 15) years. The median COI for the cohort was 84 (62, 95). There was no association between COI, ethnicity, health insurance, or primary language and the age at HeFH diagnosis or statin initiation. On multivariable analysis, black race was associated with older age at HeFH diagnosis compared to white race (adjusted estimate 1.2 +/- 0.49 yrs, p = 0.014). There was no difference in age at statin initiation by race. Higher LDL-C, male sex, and lower BMI percentile were associated with younger age at statin initiation. The COI distribution of the study cohort was significantly different than that of the catchment area (p < 0.001). 70% of the study cohort were of high and very high COI compared to 57% of the catchment area. Conclusion: Black race was associated with older age at HeFH diagnosis, however, there were no disparities in age at statin initiation. The COI of the cohort was significantly higher than that of the catchment area suggesting that low COI populations are under-referred for HeFH evaluation. Future efforts should focus on improving barriers to universal screening and identifying obstacles to HeFH diagnosis and referrals.